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rs75037667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75037667(A;A)
Make rs75037667(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12813438
GeneRNASEH2A
is asnp
is mentioned by
dbSNPrs75037667
dbSNP (classic)rs75037667
ClinGenrs75037667
ebirs75037667
HLIrs75037667
Exacrs75037667
Gnomadrs75037667
Varsomers75037667
LitVarrs75037667
Maprs75037667
PheGenIrs75037667
Biobankrs75037667
1000 genomesrs75037667
hgdprs75037667
ensemblrs75037667
geneviewrs75037667
scholarrs75037667
googlers75037667
pharmgkbrs75037667
gwascentralrs75037667
openSNPrs75037667
23andMers75037667
SNPshotrs75037667
SNPdbers75037667
MSV3drs75037667
GWAS Ctlgrs75037667
Max Magnitude0
ClinVar
Risk rs75037667(A;A)
Alt rs75037667(A;A)
Reference Rs75037667(G;G)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 4
Variation info
Gene RNASEH2A
CLNDBN Aicardi Goutieres syndrome 4
Reversed 0
HGVS NC_000019.9:g.12924252G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000114342.2,